Variant report

Variant	nsv599534
Chromosome Location	chr5:117780062-117870746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
2	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
2	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
3	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
4	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610
5	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
6	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
7	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
8	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
9	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
10	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
11	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
12	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
13	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
14	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
15	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
16	lnc-DTWD2-3	chr5:117803997-117804129	NONHSAT103396
17	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
18	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
19	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
20	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
21	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
22	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
23	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
24	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
25	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
26	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
27	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
28	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
29	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
30	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
31	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
32	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
33	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
34	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
35	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
36	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
37	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
38	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
39	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396

No data

Variant related genes	Relation type
CEBPD	miRNA target sites
CEBPB	miRNA target sites
CEBPZ	miRNA target sites
CELSR3	miRNA target sites

Extended variants
information (count: 3550 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:3550 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12513603	chr5:117780062-117780063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551938296	chr5:117780079-117780080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373868388	chr5:117780081-117780082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567552495	chr5:117780105-117780106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189753794	chr5:117780150-117780151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568337892	chr5:117780153-117780154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112605548	chr5:117780177-117780178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556596017	chr5:117780178-117780179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538233055	chr5:117780201-117780202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549320005	chr5:117780202-117780203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376522138	chr5:117780216-117780217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182715856	chr5:117780265-117780266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187361581	chr5:117780266-117780267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78418011	chr5:117780296-117780297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569038873	chr5:117780308-117780309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139802612	chr5:117780315-117780316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571697475	chr5:117780377-117780378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574781107	chr5:117780389-117780390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538865915	chr5:117780400-117780401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537628209	chr5:117780405-117780406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543058792	chr5:117780406-117780407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368925083	chr5:117780433-117780434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537286872	chr5:117780438-117780439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201034227	chr5:117780465-117780466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12518766	chr5:117780476-117780477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs56803445	chr5:117780477-117780478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572238782	chr5:117780504-117780505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531940650	chr5:117780507-117780508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552262237	chr5:117780517-117780518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536563519	chr5:117780526-117780527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149372217	chr5:117780531-117780532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146315476	chr5:117780569-117780570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139516219	chr5:117780588-117780589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537348492	chr5:117780590-117780591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550856073	chr5:117780610-117780611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116476327	chr5:117780617-117780618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35633413	chr5:117780681-117780682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144178805	chr5:117780702-117780703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192132293	chr5:117780708-117780709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115064206	chr5:117780710-117780711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117370817	chr5:117780756-117780757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554738045	chr5:117780802-117780803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574645828	chr5:117780805-117780806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183485116	chr5:117780810-117780811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187411783	chr5:117780837-117780838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543714848	chr5:117780859-117780860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543398298	chr5:117780882-117780883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189975380	chr5:117780885-117780886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75319010	chr5:117780914-117780915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146156521	chr5:117780949-117780950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117779000-117780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:117779400-117785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:117779800-117780600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:117780600-117781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:117780600-117781600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:117780600-117781800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:117780800-117781000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:117780800-117782200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:117780800-117782200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:117780800-117782400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:117780800-117782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:117781000-117781600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:117781000-117782000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:117781400-117785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:117781600-117781800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:117781600-117782000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:117781600-117782000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr5:117781800-117782000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:117781800-117782200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:117781800-117785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:117782000-117782200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr5:117782000-117782600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:117782000-117783600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:117782000-117785000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:117782200-117785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:117782200-117785400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:117782200-117785600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:117782400-117785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:117782400-117785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:117782600-117785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:117783000-117783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
34	chr5:117785000-117786600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:117785000-117786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:117785000-117787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:117785200-117787000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:117785200-117787000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:117785200-117787000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:117785400-117786600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:117785400-117786600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:117785400-117787000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:117785400-117787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:117785400-117787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:117785600-117786400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:117785800-117786800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:117785800-117787000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:117786200-117787000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:117786200-117787000	Enhancers	Brain Germinal Matrix	brain
50	chr5:117786600-117787000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links